|
Gene id |
6529 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
SLC6A1 Gene UCSC Ensembl |
|
Aliases |
GABATHG, GABATR, GAT1, MAE |
|
Gene name |
solute carrier family 6 member 1 |
|
Alternate names |
sodium- and chloride-dependent GABA transporter 1, GABA transporter 1, solute carrier family 6 (neurotransmitter transporter), member 1, solute carrier family 6 (neurotransmitter transporter, GABA), member 1, |
|
Gene location |
3p25.3 (10992733: 11039248) Exons: 18 NC_000002.12
|
|
Gene summary(Entrez) |
The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. [provided by RefSeq, Jan 2017]
|
|
OMIM |
137165 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
|
|
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| Associated diseases |
References |
| Abnormal expression may lead to spermiogenesis function injury, sperm paramorphia and dysgenesis | MIK: 19938951 |
| Myoclonic epilepsy | KEGG: H02361 |
| Psychological disorders | GAD: 19086053 |
| Attention deficit hyperactivity disorder (ADHD) | GAD: 17440935 |
| Autism | GAD: 19058789 |
| Conduct disorder | GAD: 18846501 |
| Depression | GAD: 18005940 |
| Spermatogenic defects | MIK: 19938951 |
| Cryptorchidism | MIK: 28606200 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 19938951 |
Abnormal e
xpression
may lead t
o spermiog
enesis fun
ction inju
ry, sperm
paramorphi
a and dysg
enesis
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|